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BMC Medical Genomics Jun 2024Fibrodysplasia Ossificans Progressiva (FOP; OMIM #135100) is an ultrarare genetic disorder characterised by congenital bilateral hallux valgus (CBHV), intermittent soft...
BACKGROUND
Fibrodysplasia Ossificans Progressiva (FOP; OMIM #135100) is an ultrarare genetic disorder characterised by congenital bilateral hallux valgus (CBHV), intermittent soft tissue swellings and progressive heterotopic ossification. We report a three-month-old girl with great toe abnormalities similar to FOP, in whom comprehensive clinical workup and genetic investigations illustrates an alternative diagnosis.
CASE PRESENTATION
A three-month-old girl presented with CBHV. The antenatal period was unremarkable, she was born by spontaneous vaginal delivery with an uneventful subsequent course, except for maternal concern of her bent toes which received reassurance from several health professionals. Her mother's persisting concerns were explored via the internet and social media leading her to request referral to an expert bone centre for consideration of FOP. On examination, she was thriving, there was no dysmorphism, subcutaneous lumps, skeletal or extra-skeletal deformity except for shortened great toes with lateral deviation of the proximal and distal phalanges. FOP was a feasible diagnosis, for which CBHV is highlighted as an early sign. A cautionary potential diagnosis of FOP was counselled, including advice to defer intramuscular immunisations until genetic results available. Genetic investigation was undertaken through rapid whole genomic sequencing (WGS), with analysis of data from a skeletal dysplasia gene panel, which demonstrated no ACVR1variants. The only finding was a heterozygous variant of unknown significance in BMPR1B (c1460T>A, p.(Val487Asp)), which encodes a bone morphogenic receptor involved in brachydactyly syndromes A1, A2 and D and acromesomelic dysplasia 3 (only the latter being an autosomal recessive condition).
CONCLUSION
This report highlights that CBHV serves as a vital diagnostic indicator of FOP and affected infants should be considered and investigated for FOP, including precautionary management whilst awaiting genetic studies. The second educational aspect is that CBHV may not represent a generalised skeletal disorder, or one much less significant than FOP. Receptor-ligand BMP and Activins mediated interactions are instrumental in the intricate embryology of the great toe. Recognition of non-FOP conditions caused by alterations in different genes are likely to increase with new genomic technology and large gene panels, enhancing understanding of bone signaling pathways.
Topics: Humans; Myositis Ossificans; Female; Hallux Valgus; Infant; Bone Morphogenetic Protein Receptors, Type I
PubMed: 38879467
DOI: 10.1186/s12920-024-01931-6 -
Journal of the Korean Society of... May 2024Normal variants refer to imaging findings that are generally asymptomatic and discovered incidentally, yet may exhibit findings similar to those observed in pathological... (Review)
Review
Normal variants refer to imaging findings that are generally asymptomatic and discovered incidentally, yet may exhibit findings similar to those observed in pathological conditions. Recognizing normal variants in pediatric bone requires comprehension of the developmental process of long tubular bones and secondary ossification centers. Familiarity with various radiological findings of normal variants can prevent unnecessary follow-up imaging tests, as well as incorrect diagnosis and treatment. In this review, we will discuss the characteristic imaging findings of normal variants seen in growing pediatric bones, along with strategies for distinguishing them from pathologic conditions.
PubMed: 38873378
DOI: 10.3348/jksr.2024.0024 -
Regenerative Biomaterials 2024Clinical bone-morphogenetic protein 2 (BMP2) treatment for bone regeneration, often resulting in complications like soft tissue inflammation and ectopic ossification due...
Clinical bone-morphogenetic protein 2 (BMP2) treatment for bone regeneration, often resulting in complications like soft tissue inflammation and ectopic ossification due to high dosages and non-specific delivery systems, necessitates research into improved biomaterials for better BMP2 stability and retention. To tackle this challenge, we introduced a groundbreaking bone-targeted, lipoplex-loaded, three-dimensional bioprinted bilayer scaffold, termed the polycaprolactone-bioink-nanoparticle (PBN) scaffold, aimed at boosting bone regeneration. We encapsulated BMP2 within the fibroin nanoparticle based lipoplex (Fibroplex) and functionalized it with DSS for bone tissue-specific targeting. 3D printing technology enables customized, porous PCL scaffolds for bone healing and soft tissue growth, with a two-step bioprinting process creating a cellular lattice structure and a bioink grid using gelatin-alginate hydrogel and DSS-Fibroplex, shown to support effective nutrient exchange and cell growth at specific pore sizes. The PBN scaffold is predicted through analysis to exhibit biased BMP2 release between bone and soft tissue, a finding validated by osteogenic differentiation assays. The PBN scaffold was evaluated for critical calvarial defects, focusing on sustained BMP2 delivery, prevention of soft tissue cell infiltration and controlled fiber membrane pore size . The PBN scaffold demonstrated a more than eight times longer BMP2 release time than that of the collagen sponge, promoting osteogenic differentiation and bone regeneration in a calvarial defect animal. Our findings suggest that the PBN scaffold enhanced the local concentration of BMP2 in bone defects through sustained release and improved the spatial arrangement of bone formation, thereby reducing the risk of heterotopic ossification.
PubMed: 38867890
DOI: 10.1093/rb/rbae055 -
Frontiers in Veterinary Science 2024This case report describes a 17-month-old Pudelpointer with recurring motor impairment localized to the left thoracic limb. A neurological exam highlighted lameness in...
This case report describes a 17-month-old Pudelpointer with recurring motor impairment localized to the left thoracic limb. A neurological exam highlighted lameness in that limb, accompanied by pre-scapular swelling. Radiographs and magnetic resonance imaging detected an osseous structure in soft tissues close to the fifth cervical vertebra, and subsequent surgery uncovered adjacent cervical spinal nerve impingement. Histology of the bony structure revealed heterotopic ossification in paravertebral muscles. Mild bone re-formation at the operating site was detected after a 2-year period, but the patient was asymptomatic. This article reports the first case of heterotopic ossification with spinal nerve entrapment in a dog and adds a new differential diagnosis to the causes of neurogenic lameness in dogs.
PubMed: 38846781
DOI: 10.3389/fvets.2024.1335175 -
Journal of Hand Surgery Global Online May 2024We report a case of posttraumatic compressive neuropathy of the deep motor branch of the ulnar nerve occurring in the setting of heterotopic ossification following a...
We report a case of posttraumatic compressive neuropathy of the deep motor branch of the ulnar nerve occurring in the setting of heterotopic ossification following a direct blow to the hypothenar eminence. Over several weeks, the patient developed ring and little finger claw deformities and atrophy of his first dorsal interosseous and adductor pollicis muscles with sparing of sensation. Electromyography and nerve conduction study localized the area of injury, and computed tomography confirmed the presence of heterotopic bone near the deep motor branch of the ulnar nerve. Intraoperatively, the deep motor branch of the ulnar nerve was under tension as it traversed volarly over the hook of hamate and heterotopic bone. Decompression of the deep motor branch of the ulnar nerve with resection of heterotopic bone and the hook of hamate was performed. Six months postoperatively, the patient demonstrated resolution of clawing and improving strength of his ulnar nerve innervated intrinsic muscles.
PubMed: 38817752
DOI: 10.1016/j.jhsg.2024.02.001 -
BMC Musculoskeletal Disorders May 2024This review aims to study the clinical characteristics, diagnostic results, treatments, and outcomes in patients with heterotopic ossification following COVID-19...
BACKGROUND
This review aims to study the clinical characteristics, diagnostic results, treatments, and outcomes in patients with heterotopic ossification following COVID-19 infection.
METHODS
A literature search for eligible articles was conducted using MEDLINE/Pubmed, Global Health, and Scopus databases (January 12th, 2023), including all case reports and case series from any country and language. The criteria for inclusion in this review were cases of COVID-19 infection subsequently developing heterotopic ossification.
RESULTS
This systematic review analysed 15 reports (n = 20 patients) documenting cases of heterotopic ossification following COVID-19 infection. 80% of the patients were male, with a median age of 59 years. All patients required intensive care unit stay with an average duration of 48.5 days. Mechanical ventilation was necessary for all patients and 30% of them underwent tracheostomy. Common symptoms included stiffness and pain, most frequently affecting multiple locations (70%), with the hips and shoulders being predominantly involved. X-rays were the most commonly used imaging modality, followed by computed tomography. Although treatment was given, some of the patients continued to experience symptoms, particularly stiffness.
CONCLUSION
20 patients who developed heterotopic ossification after COVID-19 have been reported, the majority of which had at least two independent risk factors for this condition. The link between those two clinical entities is therefore uncertain, requiring further investigation. It is nonetheless important to suspect heterotopic ossification in patients with severe COVID-19 infection, prolonged immobilisation, mechanical ventilation, who develop joint pain and stiffness, as this condition can significantly impact patients' quality of life.
PROTOCOL REGISTRATION
CRD42023393516.
Topics: Humans; Ossification, Heterotopic; COVID-19; Male; Middle Aged; Female; Respiration, Artificial; Aged; SARS-CoV-2; Adult
PubMed: 38811925
DOI: 10.1186/s12891-024-07537-4 -
Orthopaedic Journal of Sports Medicine May 2024Elbow ulnar collateral ligament (UCL) reconstruction (UCLR) is the gold standard for operative treatment of UCL tears, with renewed interest in UCL repairs.
BACKGROUND
Elbow ulnar collateral ligament (UCL) reconstruction (UCLR) is the gold standard for operative treatment of UCL tears, with renewed interest in UCL repairs.
PURPOSE
To (1) assess trends in rates of UCLR and UCL repair and (2) identify predictors of complications by demographic, socioeconomic, or surgical center volume factors.
STUDY DESIGN
Descriptive epidemiology study.
METHODS
Patients who underwent UCLR or UCL repair at New York State health care facilities between 2010 and 2019 were retrospectively identified; concomitant ulnar nerve procedures among the cohort were also identified. Surgical center volumes were classified as low (<99th percentile) or high (≥99th percentile). Patient information, neighborhood socioeconomic status quantified using the Area Deprivation Index, and complications within 90 days were recorded. Poisson regression analysis was used to compare trends in UCLR versus UCL repair. Multivariable regression was used to determine whether center volume, demographic, or socioeconomic variables were independent predictors of complications.
RESULTS
A total of 1448 UCL surgeries were performed, with 388 (26.8%) concomitant ulnar nerve procedures. UCLR (1084 procedures; 74.9%) was performed more commonly than UCL repair (364 procedures; 25.1%), with patients undergoing UCL repair more likely to be older, female, and not privately ensured and having undergone a concomitant ulnar nerve procedure (all < .001). With each year, there was an increased incidence rate ratio for UCL repair versus UCLR (β = 1.12 [95% CI, 1.02-1.23]; = .022). The authors identified 2 high-volume centers (720 UCL procedures; 49.7%) and 131 low-volume centers (728 UCL procedures; 50.3%). Patients undergoing UCL procedures at high-volume centers were more likely to be younger and male and receive workers' compensation (all < .001). UCL repair and ulnar nerve-related procedures were both more commonly performed at low-volume centers ( < .001). There were no significant differences in 3-month infection, ulnar neuritis, instability, arthrofibrosis, heterotopic ossification, or all-cause complication rates between low- and high-volume centers. The only significant predictor for all-cause complication was Medicaid insurance (OR, 2.91 [95% CI, 1.20-6.33]; = .011).
CONCLUSION
A rising incidence of UCL repair compared with UCLR was found in New York State, especially among female patients, older patients, and nonprivate payers. There were no differences in 3-month complication rates between high- and low-volume centers, and Medicaid insurance status was a predictor for overall complications within 90 days of operation.
PubMed: 38799547
DOI: 10.1177/23259671241246811 -
The Journal of Arthroplasty May 2024Hip resurfacing arthroplasty (HRA) is a bone-conserving alternative to total hip arthroplasty. We present the 2-year clinical and radiographic follow-up of a novel...
BACKGROUND
Hip resurfacing arthroplasty (HRA) is a bone-conserving alternative to total hip arthroplasty. We present the 2-year clinical and radiographic follow-up of a novel ceramic-on-ceramic HRA in an international multicenter cohort.
METHODS
Patients undergoing HRA between September 2018 and January 2021 were prospectively included. Patient-reported outcome measures (PROMs) in the form of the Forgotten Joint Score, Hip Disability and Osteoarthritis Outcome Score Jr., Western Ontario and McMaster Universities Arthritis Index, Oxford Hip Score, and University of California, Los Angeles, Activity Score were collected preoperatively, and at 1 and 2 years postoperation. Serial radiographs were assessed for migration, component alignment, evidence of osteolysis or loosening, and heterotopic ossification formation.
RESULTS
The study identified 200 patients who reached a minimum 2-year follow-up (mean 3.5 years). Of these, 185 completed PROMs follow-up at 2 years. There was a significant improvement in Hip Disability and Osteoarthritis Outcome Score (P < .001) and Oxford Hip Score (P < .001) between the preoperative, 1-year, and 2-year outcomes. Patients had improved activity scores on the University of California, Los Angeles, Active Score (P < .001), with 45% reporting a return to high-impact activity at 2 years. At 1 and 2 years, the Forgotten Joint Score was not significantly different (P = .38). There was no migration, osteolysis, or loosening of any of the implants. No fractures were reported over the 2-year follow-up, with only 1 patient reporting a sciatic nerve palsy. There were 2 revisions, 1 for unexplained pain at 3 months due to acetabular component malposition and 1 at 33.5 months for acetabular implant failure.
CONCLUSIONS
The ceramic-on-ceramic resurfacing at 2 years postoperation demonstrates promising results with satisfactory outcomes in all recorded PROMs. Further long-term data are needed to support the widespread adoption of this prosthesis as an alternative to other HRA bearings.
PubMed: 38782243
DOI: 10.1016/j.arth.2024.05.042 -
Orthopaedic Surgery May 2024Modic change (MC) is defined as abnormalities observed in the intervertebral disc subchondral and adjacent vertebral endplate subchondral bone changes. Most studies on...
OBJECTIVE
Modic change (MC) is defined as abnormalities observed in the intervertebral disc subchondral and adjacent vertebral endplate subchondral bone changes. Most studies on MC were reported in the lumbar spine and associated with lower back pain. However, MC has been rarely reported in the cervical spine, let alone in those who underwent cervical disc replacement (CDR). This study aimed to focus on MC in the cervical spine and reveal clinical and radiological parameters, especially heterotopic ossification (HO), for patients who underwent CDR. Furthermore, we illustrated the association between MC and HO.
METHODS
We retrospectively reviewed patients who underwent CDA from January 2008 to December 2019. The Japanese Orthopaedic Association (JOA), Neck Disability Index (NDI), and Visual Analog Scale (VAS) scores were used to evaluate the clinical outcomes. Radiological evaluations were used to conclude the cervical alignment (CL) and range of motion (ROM) of C2-7, functional spinal unit angle (FSUA), shell angle (SA), FSU height, and HO. Univariate and multivariate logistic regressions were performed to identify the risk factors for HO. The Kaplan-Meier (K-M) method was used to analyze potential risk factors, and multivariate Cox regression was used to identify independent risk factors.
RESULTS
A total of 139 patients were evaluated, with a mean follow-up time of 46.53 ± 26.60 months. Forty-nine patients were assigned to the MC group and 90 to the non-MC group. The incidence of MC was 35.3%, with type 2 being the most common. Clinical outcomes (JOA, NDI, VAS) showed no significant difference between the two groups. The differences in C2-7 ROM between the two groups were not significant, while the differences in SA ROM and FSUA ROM were significantly higher in the non-MC than in the MC group (p < 0.05). Besides, FSU height in MC group was significantly lower than that in non-MC group. Parameters concerning CL, including C2-7, FSUA, SA, were not significantly different between the two groups. The incidence of HO and high-grade HO, respectively, in the MC group was 83.7% and 30.6%, while that in the non-MC group was 53.3% and 2.2%, and such differences were significant (p < 0.05). Multivariate logistic regression analyses and Cox regression showed that MC and involved level were significantly associated with HO occurrence (p < 0.05). No implant migration and secondary surgery were observed.
CONCLUSION
MC mainly affected the incidence of HO. Preoperative MC was significantly associated with HO formation after CDR and should be identified as a potential risk factor for HO. Rigorous criteria for MC should be taken into consideration when selecting appropriate candidates for CDR.
PubMed: 38778356
DOI: 10.1111/os.14085